Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy.

• Authors: Katarzyna Mroczek-Tońska , Dorota Ratajska , Cecile Guillot , Maria Sąsiek , Anna Ambroziak , Leszek Lubos , Ewa Bartnik
• Languages of publication: EN

Abstracts

EN

We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of mitochondrial DNA and obtained a negative result.

Keywords

EN

11778A mutation; mitochondrial DNA; human; Leber hereditary optic neuropathy

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2002
• Volume: 49
• Issue: 1
• Pages: 257-262

Dates

published

2002

received

2001-12-3

accepted

2002-02-12

Contributors

author

Katarzyna Mroczek-Tońska

• Department of Genetics, University of Warsaw, Warszawa, Poland

author

Dorota Ratajska

• Department of Genetics, University of Warsaw, Warszawa, Poland

author

Cecile Guillot

• Department of Genetics, University of Warsaw, Warszawa, Poland

author

Maria Sąsiek

• Department of Genetics, Chair of Pathophysiology, Medical University, Wrocław, Poland

author

Anna Ambroziak

• Independent Public Clinical Ophthalmological Hospital, Warszawa, Poland

author

Leszek Lubos

• Silesian Medical School, Central Clinical Hospital, Neurology Clinic, Katowice, Poland

author

Ewa Bartnik

• Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warszawa, Poland

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